Canonical Allele Identifier: CA477125021
Gene: SLC37A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118896752C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026042C>A , CM000673.2:g.119026042C>A GRCh38
NC_000011.9:g.118896752C>A , CM000673.1:g.118896752C>A GRCh37
NC_000011.8:g.118401962C>A NCBI36
NG_013331.1:g.9864G>T , LRG_187:g.9864G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1053G>T
ENST00000697845.1:n.1833G>T
ENST00000697846.1:n.1053G>T
ENST00000697847.1:n.1202-285G>T
ENST00000697848.1:n.1139G>T
ENST00000697849.1:n.2948G>T
ENST00000697850.1:n.1139G>T
ENST00000697851.1:n.2747G>T
ENST00000638186.1:n.1213G>T
ENST00000638360.1:n.1045G>T
ENST00000638925.1:n.1178G>T
ENST00000650539.1:n.1315G>T
ENST00000330775.9:c.909G>T ENSP00000476242.2:p.Leu303=
ENST00000357590.9:c.909G>T ENSP00000476176.2:p.Leu303=
ENST00000524428.5:n.1145G>T
ENST00000525039.5:n.1333G>T
ENST00000525102.5:n.1667G>T
ENST00000525372.5:n.1007G>T
ENST00000526275.5:n.1691G>T
ENST00000527992.5:n.1137G>T
ENST00000529510.5:n.597G>T
ENST00000530407.5:n.1059G>T
ENST00000532085.1:n.4290G>T
ENST00000538950.5:c.690G>T ENSP00000475991.2:p.Leu230=
ENST00000545985.5:c.909G>T ENSP00000475241.2:p.Leu303=
NM_001164277.1:c.909G>T , LRG_187t1:c.909G>T NP_001157749.1:p.Leu303=
NM_001164278.1:c.909G>T NP_001157750.1:p.Leu303=
NM_001164279.1:c.690G>T NP_001157751.1:p.Leu230=
NM_001164280.1:c.909G>T NP_001157752.1:p.Leu303=
NM_001467.5:c.909G>T NP_001458.1:p.Leu303=
NM_001164278.2:c.909G>T NP_001157750.1:p.Leu303=
NM_001164279.2:c.690G>T NP_001157751.1:p.Leu230=
NM_001164280.2:c.909G>T NP_001157752.1:p.Leu303=
NM_001467.6:c.909G>T NP_001458.1:p.Leu303=
NM_001164277.2:c.909G>T MANE Select NP_001157749.1:p.Leu303=